Coenzyme Q(10) partially restores pathological alterations in a macrophage model of Gaucher disease

BACKGROUND: Gaucher disease (GD) is caused by mutations in the GBA1 gene which encodes lysosomal β-glucocerebrosidase (GCase). In GD, partial or complete loss of GCase activity causes the accumulation of the glycolipids glucosylceramide (GlcCer) and glucosylsphingosine in the lysosomes of macrophage...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: de la Mata, Mario, Cotán, David, Oropesa-Ávila, Manuel, Villanueva-Paz, Marina, de Lavera, Isabel, Álvarez-Córdoba, Mónica, Luzón-Hidalgo, Raquel, Suárez-Rivero, Juan M., Tiscornia, Gustavo, Sánchez-Alcázar, José A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2017
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5292786/
https://ncbi.nlm.nih.gov/pubmed/28166796
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0574-8
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi